Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-08 DOI:10.1097/YPG.0000000000000389

Sevgi Karabulut Uzunçakmak, Halil Özcan, Ebubekir Dirican

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引用次数: 0

Abstract

Objective: The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 ( STC1 ) and uncoupling protein 2 ( UCP2 ) mRNA expressions and their relationship with clinical data and each other were also investigated.

Method: The blood samples of 100 individuals were included in this study. Real-time PCR was used to evaluate mRNA expressions of STC1 and UCP2 . Genetic alterations were investigated via Sanger DNA sequencing. An in silico analysis was performed to reveal the phenotypic effects of MT-CYB mutations.

Results: In the MT-CYB gene of the bipolar disorder patients, the most seen mutations were the T194A A>G mutation at position 1532, G deletion at position 15498, and C>A L236I mutation at position 15452. Most of the mutations appeared to be neutral or benign. The UCP2 and STC1 mRNA expression levels were significantly higher in the patients than in the healthy controls ( P = 0.0124 and P < 0.0001, respectively). The area under the curve values of the receiver operating characteristic curve analysis for UCP2 and STC1 were 0.6631 ( P = 0.0123) and 0.8059 ( P < 0.0001), respectively. No significant relationship was observed between the gene expressions and the routine laboratory findings. There was a positive correlation between the UCP2 and STC1 mRNA expressions in the bipolar disorder patients ( r = 0.03559, P = 0.0306).

Conclusion: Expression of UCP2 and STC1 may be important parameters in bipolar disorder. MT-CYB mutations may be related to gene expressions. Comprehensive studies on bipolar disorder will help better understand UCP2 and STC1 gene functions.

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双相情感障碍患者细胞色素B突变、UCP2和STC1基因表达的研究。

目的：研究双相情感障碍患者线粒体细胞色素B （MT-CYB）突变。研究了斯坦钙素-1 （STC1）和解偶联蛋白2 (UCP2) mRNA的表达及其与临床数据的关系。方法：采用100例个体的血液样本进行研究。Real-time PCR检测STC1和UCP2 mRNA的表达情况。通过桑格DNA测序研究遗传改变。进行了计算机分析以揭示MT-CYB突变的表型效应。结果：在双相情感障碍患者的MT-CYB基因中，最常见的突变是1532位的T194A A>G突变，15498位的G缺失，15452位的C>A L236I突变。大多数突变似乎是中性的或良性的。患者的UCP2和STC1 mRNA表达水平显著高于健康对照组（P = 0.0124和P）。结论：UCP2和STC1的表达可能是双相情感障碍的重要参数。MT-CYB突变可能与基因表达有关。对双相情感障碍的全面研究将有助于更好地了解UCP2和STC1基因的功能。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.